{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014101", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014101", 
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014101", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014101", 
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; MDDGA12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014101", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014101", 
            "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014101", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014101", 
            "name": "POMK muscular dystrophy-dystroglycanopathy, type A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014101", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014101", 
            "name": "MDDGA12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014101", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014101", 
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111235", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111235", 
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease POMK-related"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111235", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111235", 
            "name": "MDDGA12"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111235", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111235", 
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111235", 
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111235", 
        "name": "congenital muscular dystrophy-dystroglycanopathy type A12"
    }, 
    "evidence": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014101", 
            "id": "0014101", 
            "database": "MONDO"
        }, 
        {
            "url": "https://www.omim.org/entry/615249", 
            "id": "615249", 
            "database": "MIM"
        }
    ]
}